Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

Volume: 40, Issue: 11, Pages: 2021 - 2032
Published: Jul 29, 2019
Abstract
The X-linked NLGN3 gene, encoding a postsynaptic cell adhesion molecule, was involved in a nonsyndromic monogenic form of autism spectrum disorder (ASD) by the description of one unique missense variant, p.Arg451Cys (Jamain et al. 2003). We investigated here the pathogenicity of additional missense variants identified in two multiplex families with intellectual disability (ID) and ASD: c.1789C>T, p.Arg597Trp, previously reported by our group...
Paper Details
Title
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment
Published Date
Jul 29, 2019
Volume
40
Issue
11
Pages
2021 - 2032
Citation AnalysisPro
  • Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
  • Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.